Incidental Mutation 'R5272:Tpst2'
ID |
400400 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpst2
|
Ensembl Gene |
ENSMUSG00000029344 |
Gene Name |
protein-tyrosine sulfotransferase 2 |
Synonyms |
D5Ucla3, grt, grm, Tango13b |
MMRRC Submission |
042836-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.695)
|
Stock # |
R5272 (G1)
|
Quality Score |
116 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
112424557-112463227 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 112455818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 119
(V119E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031287]
[ENSMUST00000071455]
[ENSMUST00000151947]
|
AlphaFold |
O88856 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031287
AA Change: V119E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031287 Gene: ENSMUSG00000029344 AA Change: V119E
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_3
|
82 |
272 |
8.8e-19 |
PFAM |
Pfam:Sulfotransfer_1
|
82 |
284 |
2.8e-9 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000071455
AA Change: V119E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000071399 Gene: ENSMUSG00000029344 AA Change: V119E
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
43 |
N/A |
INTRINSIC |
Pfam:Sulfotransfer_3
|
82 |
276 |
8.4e-16 |
PFAM |
Pfam:Sulfotransfer_1
|
82 |
284 |
2.8e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134071
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139482
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140262
|
SMART Domains |
Protein: ENSMUSP00000116816 Gene: ENSMUSG00000029344
Domain | Start | End | E-Value | Type |
PDB:3AP2|B
|
2 |
63 |
4e-36 |
PDB |
SCOP:d1fmja_
|
3 |
55 |
9e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151947
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198502
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Spontaneous mutants show a delayed rise and a prolonged deficit of pituitary growth hormone resulting in delayed pubertal growth, hypothyroidism, and an enlarged adenohypophysis with aberrant chromophobic cells. Homozygous null mice show a modest but transient pubertal growth lag and male sterility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
A |
G |
3: 32,772,759 (GRCm39) |
E245G |
probably damaging |
Het |
Arsb |
A |
T |
13: 93,930,670 (GRCm39) |
T213S |
possibly damaging |
Het |
Cep152 |
G |
A |
2: 125,452,950 (GRCm39) |
T374I |
probably benign |
Het |
Crx |
C |
T |
7: 15,602,210 (GRCm39) |
C156Y |
probably damaging |
Het |
Csmd1 |
T |
A |
8: 16,249,958 (GRCm39) |
T1007S |
probably damaging |
Het |
Cyp19a1 |
A |
T |
9: 54,083,898 (GRCm39) |
C164S |
probably benign |
Het |
Ddx55 |
A |
T |
5: 124,696,092 (GRCm39) |
I137F |
possibly damaging |
Het |
Dgkg |
C |
A |
16: 22,407,044 (GRCm39) |
|
probably null |
Het |
Dicer1 |
A |
G |
12: 104,670,499 (GRCm39) |
I1022T |
probably damaging |
Het |
Dis3l2 |
T |
C |
1: 86,901,126 (GRCm39) |
V439A |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,350,811 (GRCm39) |
V2611A |
probably benign |
Het |
Dnah6 |
A |
G |
6: 73,104,844 (GRCm39) |
|
probably null |
Het |
Ercc6 |
A |
T |
14: 32,240,985 (GRCm39) |
K170* |
probably null |
Het |
Fibcd1 |
A |
T |
2: 31,706,635 (GRCm39) |
C399S |
probably damaging |
Het |
Fibcd1 |
G |
T |
2: 31,706,636 (GRCm39) |
N398K |
probably damaging |
Het |
Fnbp4 |
G |
A |
2: 90,583,459 (GRCm39) |
M327I |
probably benign |
Het |
Fryl |
A |
T |
5: 73,222,479 (GRCm39) |
L256* |
probably null |
Het |
Galr1 |
T |
A |
18: 82,423,761 (GRCm39) |
Y172F |
probably benign |
Het |
Gpi1 |
T |
C |
7: 33,920,115 (GRCm39) |
N186S |
probably damaging |
Het |
Kcnh8 |
A |
G |
17: 53,212,043 (GRCm39) |
I614V |
probably damaging |
Het |
Krt23 |
A |
T |
11: 99,369,099 (GRCm39) |
I398N |
probably damaging |
Het |
Mia3 |
G |
A |
1: 183,109,125 (GRCm39) |
R656* |
probably null |
Het |
Mup6 |
G |
C |
4: 60,005,922 (GRCm39) |
G138A |
probably damaging |
Het |
Nectin3 |
A |
G |
16: 46,268,839 (GRCm39) |
V521A |
possibly damaging |
Het |
Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
Nphs1 |
A |
G |
7: 30,181,067 (GRCm39) |
E1096G |
possibly damaging |
Het |
Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
Panx1 |
C |
T |
9: 14,956,152 (GRCm39) |
|
probably null |
Het |
Pcdhb4 |
A |
G |
18: 37,440,819 (GRCm39) |
Y43C |
probably benign |
Het |
Plbd1 |
A |
G |
6: 136,617,156 (GRCm39) |
Y62H |
probably damaging |
Het |
Rab40b |
A |
G |
11: 121,248,134 (GRCm39) |
V190A |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,483,558 (GRCm39) |
E4063G |
probably damaging |
Het |
Smlr1 |
T |
C |
10: 25,411,925 (GRCm39) |
I21V |
probably benign |
Het |
Tenm4 |
T |
A |
7: 96,523,410 (GRCm39) |
Y1614N |
probably damaging |
Het |
Tesmin |
C |
A |
19: 3,456,992 (GRCm39) |
A257E |
probably damaging |
Het |
Tgif1 |
A |
G |
17: 71,153,249 (GRCm39) |
L34P |
probably damaging |
Het |
Ticrr |
C |
A |
7: 79,319,353 (GRCm39) |
T446K |
probably benign |
Het |
Tmc7 |
A |
G |
7: 118,160,276 (GRCm39) |
I187T |
probably benign |
Het |
Trf |
A |
T |
9: 103,105,177 (GRCm39) |
M45K |
probably damaging |
Het |
Trim45 |
T |
C |
3: 100,837,235 (GRCm39) |
C524R |
probably damaging |
Het |
Ttc27 |
G |
A |
17: 75,049,972 (GRCm39) |
V293I |
probably damaging |
Het |
Ugt1a6b |
C |
T |
1: 88,034,949 (GRCm39) |
R96C |
possibly damaging |
Het |
Vit |
A |
G |
17: 78,894,264 (GRCm39) |
Q222R |
probably benign |
Het |
Zfp148 |
T |
A |
16: 33,316,594 (GRCm39) |
V380D |
probably damaging |
Het |
|
Other mutations in Tpst2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01727:Tpst2
|
APN |
5 |
112,457,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03268:Tpst2
|
APN |
5 |
112,456,091 (GRCm39) |
missense |
probably damaging |
1.00 |
blooming
|
UTSW |
5 |
112,455,623 (GRCm39) |
missense |
probably benign |
|
feldspar
|
UTSW |
5 |
112,456,171 (GRCm39) |
nonsense |
probably null |
|
gypsum
|
UTSW |
5 |
112,455,911 (GRCm39) |
missense |
probably damaging |
1.00 |
hot_springs
|
UTSW |
5 |
112,455,544 (GRCm39) |
missense |
probably benign |
0.05 |
R1175:Tpst2
|
UTSW |
5 |
112,455,911 (GRCm39) |
missense |
probably damaging |
1.00 |
R1423:Tpst2
|
UTSW |
5 |
112,455,488 (GRCm39) |
missense |
probably benign |
0.22 |
R1537:Tpst2
|
UTSW |
5 |
112,456,286 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2013:Tpst2
|
UTSW |
5 |
112,455,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R4624:Tpst2
|
UTSW |
5 |
112,456,162 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Tpst2
|
UTSW |
5 |
112,457,687 (GRCm39) |
nonsense |
probably null |
|
R4875:Tpst2
|
UTSW |
5 |
112,457,687 (GRCm39) |
nonsense |
probably null |
|
R6123:Tpst2
|
UTSW |
5 |
112,456,084 (GRCm39) |
missense |
probably damaging |
1.00 |
R6487:Tpst2
|
UTSW |
5 |
112,455,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R6605:Tpst2
|
UTSW |
5 |
112,424,600 (GRCm39) |
start gained |
probably benign |
|
R6688:Tpst2
|
UTSW |
5 |
112,455,623 (GRCm39) |
missense |
probably benign |
|
R7240:Tpst2
|
UTSW |
5 |
112,455,544 (GRCm39) |
missense |
probably benign |
0.05 |
R7625:Tpst2
|
UTSW |
5 |
112,455,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R7777:Tpst2
|
UTSW |
5 |
112,457,560 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7797:Tpst2
|
UTSW |
5 |
112,455,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Tpst2
|
UTSW |
5 |
112,455,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R8486:Tpst2
|
UTSW |
5 |
112,456,171 (GRCm39) |
nonsense |
probably null |
|
R8875:Tpst2
|
UTSW |
5 |
112,457,714 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGGGCAGCAAGTACTGGAG -3'
(R):5'- CCAGGTAGACGGATGACTTGAG -3'
Sequencing Primer
(F):5'- CAGCAAGTACTGGAGTGCCG -3'
(R):5'- AGTGTGAAGGGGTCCTTGTTACAC -3'
|
Posted On |
2016-07-06 |